Variant report

Variant	rs17210536
Chromosome Location	chr8:131217790-131217791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131209387..131211593-chr8:131215187..131218348,4	K562	blood:
2	chr8:131216012..131218539-chr8:131221630..131223240,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1417008	0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs1426102	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs1556972	0.88[CEU][hapmap]
rs16904209	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs16904210	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs16904214	0.88[CEU][hapmap]
rs16904215	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.86[EUR][1000 genomes]
rs16904227	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs16904229	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs16904230	0.88[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs16904232	0.88[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs16904235	0.88[CEU][hapmap]
rs16904236	0.88[CEU][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs16904237	0.82[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs16904247	0.88[CEU][hapmap]
rs16904251	0.88[CEU][hapmap]
rs16904252	0.83[GIH][hapmap];1.00[MEX][hapmap]
rs16904253	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs16904257	0.88[CEU][hapmap]
rs16904261	0.82[CEU][hapmap]
rs2303444	0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs2305510	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs3758028	0.85[GIH][hapmap];0.82[MEX][hapmap]
rs4363239	0.88[CEU][hapmap]
rs4629915	0.82[CEU][hapmap]
rs749126	0.83[CEU][hapmap];0.88[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17210536	PHF20L1	cis	parietal	SCAN
rs17210536	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs17210536	ASAP1	cis	Esophagus Muscularis	GTEx
rs17210536	ASAP1	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
2	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
3	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
4	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
6	chr8:131200600-131218400	Weak transcription	HepG2	liver
7	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
9	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
10	chr8:131207800-131218400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:131209000-131218600	Weak transcription	Fetal Kidney	kidney
12	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
14	chr8:131210000-131219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:131210000-131250400	Weak transcription	Gastric	stomach
16	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
17	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
18	chr8:131211200-131218800	Weak transcription	Fetal Intestine Small	intestine
19	chr8:131211400-131218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:131211400-131219600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
22	chr8:131211600-131219600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:131211800-131218400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:131211800-131218800	Weak transcription	NH-A	brain
25	chr8:131211800-131219800	Weak transcription	HSMMtube	muscle
26	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
27	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
28	chr8:131213600-131219000	Weak transcription	Liver	Liver
29	chr8:131213600-131219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:131213600-131224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
32	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
34	chr8:131214200-131218400	Weak transcription	GM12878-XiMat	blood
35	chr8:131214200-131224600	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:131214400-131218400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:131214400-131219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:131214400-131219000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:131214600-131218000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131214600-131218400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:131214600-131218400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:131214600-131218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:131214600-131218400	Weak transcription	NHEK	skin
46	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:131214600-131238200	Weak transcription	Ovary	ovary
48	chr8:131214800-131217800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:131214800-131218000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:131214800-131218400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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